Mutation Details for c.2924_2925delGA
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cDNA Name
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c.2924_2925delGA
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Protein Name
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p.Arg975IlefsX10
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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3056delGA
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Other Details
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This mutation destroys a HinfI site and was found in two unrelated Danish patients on hapltype C7 (KM19/XV2c/IVS8CA).
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Contributors
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Schwartz M,
Palle AL,
Vedel G,
Larsen P
1993-02-12
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Institute
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Section of Clinical Genetics
Copenhagen, Denmark
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Submitted Phenotype Details
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Reference
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Schwartz et al. (NL#53)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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